46,XY, G-, t(Gq Gq)+karyotype in a mongol

Summary

A Bengalee Hindu boy, 2 years 8 months of age, with clinical features of mongolism following a fall, developed paraplegia and urinary incontinence. The etiology of the neurological defects could not be definitely determined.

Dermatoglyphic analysis of the palm prints was consistent with but not diagnostic of mongolism.

A leucocyte culture revealed 46 chromosomes and a 46, XY, G-,t (Gq Gq)+ karyotype. Both his parents were clinically and chromosomally normal. Of 30 mongols investigated cytogenetically, 2 translocation mongols were detected, both belonging to the G/G type. In the absence of data from other parts of the country, it is not known if the G/G type occurs with greater frequency than the D/G type.